Canonical Allele Identifier: CA645594424

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 836929
• ClinVar RCV Id: RCV001038155
• dbSNP Id: rs1942357670
• COSMIC: COSM221140 ; COSM221141

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022122_49022123del , CM000674.2:g.49022122_49022123del	GRCh38
NC_000012.11:g.49415905_49415906del , CM000674.1:g.49415905_49415906del	GRCh37
NC_000012.10:g.47702172_47702173del	NCBI36
NG_027827.1:g.38206_38207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.415_416del
ENST00000681974.1:n.1117_1118del
ENST00000682693.1:n.2079_2080del
ENST00000682886.1:n.851_852del
ENST00000683543.2:c.16493_16494del	ENSP00000506726.1:p.Val5498GlyfsTer7
ENST00000683988.1:c.416_417del	ENSP00000506939.1:p.Val139GlyfsTer7
ENST00000684428.1:c.1038_1039del	ENSP00000507433.1:n.1038_1039del
ENST00000685024.1:c.1599_1600del
ENST00000685166.1:c.16454_16455del	ENSP00000509386.1:p.Val5485GlyfsTer7
ENST00000691932.1:c.446_447del	ENSP00000509037.1:p.Val149GlyfsTer7
ENST00000692637.1:c.16442_16443del	ENSP00000509666.1:p.Val5481GlyfsTer7
ENST00000301067.12:c.16445_16446del MANE Select	ENSP00000301067.7:p.Val5482GlyfsTer7
ENST00000301067.11:c.16445_16446del	ENSP00000301067.7:p.Val5482GlyfsTer7
ENST00000526209.1:c.488_489del	ENSP00000435714.1:p.Val163GlyfsTer7
NM_003482.3:c.16445_16446del	NP_003473.3:p.Val5482GlyfsTer7
XM_005269162.3:c.16445_16446del	XP_005269219.1:p.Val5482GlyfsTer7
XM_006719614.2:c.16454_16455del	XP_006719677.1:p.Val5485GlyfsTer7
XM_006719616.2:c.16442_16443del	XP_006719679.1:p.Val5481GlyfsTer7
XM_011538770.1:c.16502_16503del	XP_011537072.1:p.Val5501GlyfsTer7
XM_011538771.1:c.16499_16500del	XP_011537073.1:p.Val5500GlyfsTer7
XM_011538772.1:c.16493_16494del	XP_011537074.1:p.Val5498GlyfsTer7
XM_011538773.1:c.16490_16491del	XP_011537075.1:p.Val5497GlyfsTer7
XM_011538774.1:c.16481_16482del	XP_011537076.1:p.Val5494GlyfsTer7
XM_011538775.1:c.16436_16437del	XP_011537077.1:p.Val5479GlyfsTer7
XM_011538776.1:c.16409_16410del	XP_011537078.1:p.Val5470GlyfsTer7
XM_005269162.4:c.16445_16446del	XP_005269219.1:p.Val5482GlyfsTer7
XM_006719614.4:c.16454_16455del	XP_006719677.1:p.Val5485GlyfsTer7
XM_006719616.3:c.16442_16443del	XP_006719679.1:p.Val5481GlyfsTer7
XM_011538770.2:c.16502_16503del	XP_011537072.1:p.Val5501GlyfsTer7
XM_011538771.2:c.16499_16500del	XP_011537073.1:p.Val5500GlyfsTer7
XM_011538772.2:c.16493_16494del	XP_011537074.1:p.Val5498GlyfsTer7
XM_011538773.2:c.16490_16491del	XP_011537075.1:p.Val5497GlyfsTer7
XM_011538774.2:c.16481_16482del	XP_011537076.1:p.Val5494GlyfsTer7
XM_011538776.2:c.16409_16410del	XP_011537078.1:p.Val5470GlyfsTer7
XR_001748874.1:n.16622_16623del
NM_003482.4:c.16445_16446del MANE Select	NP_003473.3:p.Val5482GlyfsTer7